神経線維腫症I型

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001042492.3(NF1):c.4430+1G>C	NF1	Pathogenic/Likely pathogenic	17	29586148	29586148	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)	NF1	Pathogenic/Likely pathogenic	17	29585419	29585419	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)	NF1	Pathogenic/Likely pathogenic	17	29585371	29585371	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)	NF1	Pathogenic/Likely pathogenic	17	29560109	29560109	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)	NF1	Pathogenic/Likely pathogenic	17	29559721	29559721	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)	NF1	Pathogenic/Likely pathogenic	17	29559206	29559206	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2991-2A>C	NF1	Pathogenic/Likely pathogenic	17	29557276	29557276	A	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.2846dup (p.Gln950fs)	NF1	Pathogenic/Likely pathogenic	17	29556477	29556478	A	AG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)	NF1	Pathogenic/Likely pathogenic	17	29556419	29556419	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)	NF1	Pathogenic/Likely pathogenic	17	29556193	29556193	C	T	criteria provided, multiple submitters, no conflicts	-